rs121908363
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908363(C;T) |
Make rs121908363(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107710126 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs121908363 |
dbSNP (classic) | rs121908363 |
ClinGen | rs121908363 |
ebi | rs121908363 |
HLI | rs121908363 |
Exac | rs121908363 |
Gnomad | rs121908363 |
Varsome | rs121908363 |
LitVar | rs121908363 |
Map | rs121908363 |
PheGenI | rs121908363 |
Biobank | rs121908363 |
1000 genomes | rs121908363 |
hgdp | rs121908363 |
ensembl | rs121908363 |
geneview | rs121908363 |
scholar | rs121908363 |
rs121908363 | |
pharmgkb | rs121908363 |
gwascentral | rs121908363 |
openSNP | rs121908363 |
23andMe | rs121908363 |
SNPshot | rs121908363 |
SNPdbe | rs121908363 |
MSV3d | rs121908363 |
GWAS Ctlg | rs121908363 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908363(T;T) |
Alt | rs121908363(T;T) |
Reference | Rs121908363(C;C) |
Significance | Other |
Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107350571C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005096.3, RCV000005097.5, RCV000154350.2, |